Fertility and pre-natal genetic testing

Our principal, Conrad Curry represented a couple in a landmark case in the Supreme Court of New South Wales late last year, in which the couple resolved the first stage of their case against a major Australian Genetic Testing Laboratory.

The couple are the parents of two beautiful boys who have the genetic disorder – Fragile X Syndrome. The disorder is the biggest single gene cause of autism spectrum disorder and mental retardation in children worldwide. It is an hereditary X-dominant linked disorder which is passed down by parents to their children and can cause behavioural, developmental and intellectual disability. Typically, boys suffer the full affects of the disorder (to varying degrees) and girls are less affected and often carriers.

The mother’s uncle had been diagnosed with Fragile X and it was recommended that she too have testing before considering starting a family. Her G.P. referred her to a pathology service who took her blood and sent it off to the genetic testing laboratory requesting testing for carrier status. Unfortunately, testing was conducted which could only detect full mutation of the disorder and not carrier status. She was not advised, nor was her G.P., that the test which could detect carrier status was not used – the results returned were normal (a false negative).

The couple met, and started their relationship, married and conceived two children in the comfort and knowledge that their children would not be affected by the disorder. Both boys were affected by delayed development and after referral to a paediatrician and subsequent genetic testing they were diagnosed with Fragile X Syndrome. Mum had further (and appropriate) testing which revealed that she was in fact a carrier of the genetic disorder.

It is obvious that the couple love their children very much, but had they known that mum was a carrier they would have looked to different methods of parenting, or had in utero pre-natal testing to determine the genetic status of the foetus in the early stages of pregnancy.

They alleged that the laboratory was negligent and should have advised if the test conducted was incapable of determining the very issue for which the testing was conducted. Their case raises very significant and undetermined issues of law in wrongful birth law.

Conrad has also recently been instructed in several other genetic false negative cases in the context of IVF testing at embryonic stage and pre-natal testing by Chorionic Villus Sample. Watch this space for developments.